title: A polymorphism in a functional region of the COL5A1 gene: association with ultraendurance-running performance and joint range of motion.
abstract: OBJECTIVE
  Endurance-running performance and joint range of motion (ROM) are both multifactorial phenotypes. A single-nucleotide polymorphism, rs172722 (C/T), in the COL5A1 3'-untranslated region (UTR) was shown to independently associate with both phenotypes. Two major functional forms of the COL5A1 3'-UTR have been identified and differ by 7 tightly linked polymorphisms that include rs12722 and a short tandem-repeat polymorphism (STRP rs71746744, -/AGGG). It has been proposed that STRP rs71746744 plays a role in the predicted secondary structures and mRNA stability of the 2 major forms of the COL5A1 3'-UTR, therefore implying a regulatory role. The aim of this study was to determine whether STRP rs71746744 is independently associated with running performance and prerace sit-and-reach range of motion (SR ROM) in a cohort of ultramarathon road runners.
  
  
  METHODS
  One hundred six (74 men and 32 women, age 22-67 y) white runners who participated in either the 2009 or 2011 Two Oceans 56-km ultramarathon were included in this cross-sectional study. Their SR ROM measurements, COL5A1 rs71746744 genotype, and overall race times were determined.
  
  
  RESULTS
  COL5A1 rs71746744 was independently associated with running performance (P = .024) and prerace SR ROM (P = .020). Moreover, the AGGG/AGGG genotype was significantly overrepresented in the fastest and inflexible athletes compared with those with either the -/AGGG or -/- genotype.
  
  
  CONCLUSIONS
  These findings provide further evidence for a relationship between COL5A1, running performance, and SR ROM. Further studies are needed to investigate the effect of this variant on the mechanical properties of connective tissue.
authors.affiliation: UCT/MRC Research Unit for Exercise Science and Sports Medicine, University of Cape Town, Cape Town, South Africa.
authors.forename: Shameemah
authors.initials: S
authors.lastname: Abrahams
authors.forename: Michael
authors.initials: M
authors.lastname: Posthumus
authors.forename: Malcolm
authors.initials: M
authors.lastname: Collins
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D000368:Aged; D001696:Biomechanical Phenomena; D024062:Collagen Type V / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007596:Joints / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D010641:Phenotype; D010807:Physical Endurance / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016059:Range of Motion, Articular; D012420:Running; D013647:Task Performance and Analysis; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; C530725:COL5A1 protein, human; D024062:Collagen Type V